DisGeNET - a database of gene-disease associations

List of associated variants

Malignant neoplasm of esophagus, C0546837

Source: ALL

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs989902	PTPN13	0.742	0.240	4	86785353	missense variant	T/G	snv	0.42	0.53	12
rs9868873	SEMA5B	1.000	0.080	3	123012063	intron variant	G/A	snv		0.28	2
rs9841504	ZBTB20	0.827	0.120	3	114643917	intron variant	C/G;T	snv			7
rs920778	HOTAIR	0.633	0.480	12	53966448	intron variant	G/A	snv		0.57	36
rs917870680	MDM2	0.925	0.080	12	68839304	missense variant	A/G	snv			3
rs917112	PLOD3	1.000	0.080	7	101213710	intron variant	T/C	snv		1.1E-02	1
rs895819	MIR23A ; LOC284454 ; MIR27A ; MIR24-2	0.623	0.560	19	13836478	non coding transcript exon variant	T/A;C;G	snv	0.34	0.38	46
rs886063150	CA2	0.925	0.080	8	85477151	missense variant	C/A;T	snv	8.0E-06		3
rs879253942	TP53	0.677	0.400	17	7673826	missense variant	A/G	snv			28
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs873601	BIVM-ERCC5 ; ERCC5	0.677	0.360	13	102875987	3 prime UTR variant	G/A	snv		0.59	25
rs861530	LOC112268131 ; XRCC3 ; KLC1	0.732	0.320	14	103707786	3 prime UTR variant	T/C	snv		0.65	13
rs8120594	NANP	1.000	0.080	20	25619019	intron variant	A/G	snv		0.17	1
rs8103163	ZNF208	0.882	0.120	19	21991950	intron variant	A/C	snv		0.59	4
rs8030672		1.000	0.080	15	68766745	intergenic variant	T/A	snv		5.4E-02	2
rs7982141	HSPH1	1.000	0.080	13	31136218	3 prime UTR variant	C/A;T	snv			1
rs7922612	PLCE1	0.752	0.080	10	94051682	intron variant	C/T	snv		0.39	14
rs7813	GEMIN4	0.689	0.360	17	744946	missense variant	G/A;C	snv	0.63		22
rs776933870	PLCE1	0.925	0.080	10	94306632	missense variant	A/G	snv	8.0E-06		3
rs7763881	HULC ; LOC100506207	0.776	0.160	6	8653014	non coding transcript exon variant	A/C	snv		0.44	11
rs775144154	SLC19A1	0.627	0.600	21	45531904	missense variant	C/A;T	snv	9.7E-06; 1.4E-05		38
rs7726463		1.000	0.080	5	37954971	intron variant	T/C	snv		9.1E-02	1
rs770728618	IL17D	0.925	0.080	13	20721723	missense variant	G/C;T	snv	5.3E-05		3
rs767551092	XPC	0.790	0.200	3	14164838	missense variant	G/A	snv	4.0E-06		10
rs762846821	TP53	0.614	0.320	17	7675151	missense variant	C/A;T	snv	8.0E-06		57